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Aliases for RNASEH2C Gene

Aliases for RNASEH2C Gene

  • Ribonuclease H2 Subunit C 2 3 3 5
  • Aicardi-Goutieres Syndrome 3 Protein 3 4
  • Ribonuclease HI Subunit C 3 4
  • RNase H1 Small Subunit 3 4
  • RNase H2 Subunit C 3 4
  • AGS3 3 4
  • AYP1 3 4
  • Aicardi-Goutieres Syndrome 3 2
  • Ribonuclease H2, Subunit C 2

External Ids for RNASEH2C Gene

Previous GeneCards Identifiers for RNASEH2C Gene

  • GC11M065241
  • GC11M065485
  • GC11M061811

Summaries for RNASEH2C Gene

Entrez Gene Summary for RNASEH2C Gene

  • This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNASEH2C Gene

RNASEH2C (Ribonuclease H2 Subunit C) is a Protein Coding gene. Diseases associated with RNASEH2C include Aicardi-Goutieres Syndrome 3 and Aicardi-Goutieres Syndrome. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis.

UniProtKB/Swiss-Prot for RNASEH2C Gene

  • Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.

Additional gene information for RNASEH2C Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNASEH2C Gene

Genomics for RNASEH2C Gene

GeneHancer (GH) Regulatory Elements for RNASEH2C Gene

Promoters and enhancers for RNASEH2C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J065718 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 680.5 +1.1 1121 3.2 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 RNASEH2C SF1 PCNX3 RBM4 SART1 ENSG00000255320 POLA2 KAT5 EIF1AD ENSG00000258297
GH11J065886 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 41.2 -174.5 -174511 18.4 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 FOSL1 FIBP DRAP1 RBM14 ENSG00000258297 KAT5 MUS81 SART1 SF3B2 RBM4
GH11J065414 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +296.8 296766 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NEAT1 ENSG00000278050 GC11P065538 ENSG00000278144 ENSG00000277599 SF1 LOC105369352 ZFPL1 POLA2 EIF1AD
GH11J065609 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26 +106.9 106948 8.5 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 NFYC SSRP1 MAP3K11 PCNX3 LOC105369352 EIF1AD SF1 ENSG00000254461 SF3B2 RNASEH2C KAT5 ZFPL1
GH11J065774 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 25.2 -57.5 -57460 8.8 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B CBX5 ZNF207 ZNF143 AP5B1 RBM14 ENSG00000258297 LOC105369352 RBM4 SF1 SF3B2 ENSG00000254461 PCNX3 ZFPL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNASEH2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNASEH2C gene promoter:
  • STAT3
  • AP-2alpha isoform 2
  • AP-2alpha
  • AP-2alpha isoform 3

Genomic Locations for RNASEH2C Gene

Genomic Locations for RNASEH2C Gene
chr11:65,714,005-65,720,947
(GRCh38/hg38)
Size:
6,943 bases
Orientation:
Minus strand
chr11:65,482,367-65,488,418
(GRCh37/hg19)
Size:
6,052 bases
Orientation:
Minus strand

Genomic View for RNASEH2C Gene

Genes around RNASEH2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNASEH2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNASEH2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASEH2C Gene

Proteins for RNASEH2C Gene

  • Protein details for RNASEH2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDP1-RNH2C_HUMAN
    Recommended name:
    Ribonuclease H2 subunit C
    Protein Accession:
    Q8TDP1
    Secondary Accessions:
    • Q9H7F5

    Protein attributes for RNASEH2C Gene

    Size:
    164 amino acids
    Molecular mass:
    17840 Da
    Quaternary structure:
    • The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.
    Miscellaneous:
    • The T6 pseudogene located upstream of SRY on chromosome Y is derived from the transcript of this gene.

    Three dimensional structures from OCA and Proteopedia for RNASEH2C Gene

neXtProt entry for RNASEH2C Gene

Post-translational modifications for RNASEH2C Gene

  • Ubiquitination at posLast=143143
  • Modification sites at PhosphoSitePlus

Other Protein References for RNASEH2C Gene

No data available for DME Specific Peptides for RNASEH2C Gene

Domains & Families for RNASEH2C Gene

Gene Families for RNASEH2C Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RNASEH2C Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNASEH2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDP1

UniProtKB/Swiss-Prot:

RNH2C_HUMAN :
  • Belongs to the RNase H2 subunit C family.
Family:
  • Belongs to the RNase H2 subunit C family.
genes like me logo Genes that share domains with RNASEH2C: view

Function for RNASEH2C Gene

Molecular function for RNASEH2C Gene

UniProtKB/Swiss-Prot Function:
Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.

Phenotypes From GWAS Catalog for RNASEH2C Gene

genes like me logo Genes that share phenotypes with RNASEH2C: view

Human Phenotype Ontology for RNASEH2C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNASEH2C Gene

MGI Knock Outs for RNASEH2C:

miRNA for RNASEH2C Gene

miRTarBase miRNAs that target RNASEH2C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RNASEH2C Gene

Localization for RNASEH2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASEH2C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNASEH2C gene
Compartment Confidence
nucleus 4
extracellular 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNASEH2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0032299 ribonuclease H2 complex IEA,IDA 21177858
genes like me logo Genes that share ontologies with RNASEH2C: view

Pathways & Interactions for RNASEH2C Gene

SuperPathways for RNASEH2C Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
genes like me logo Genes that share pathways with RNASEH2C: view

Pathways by source for RNASEH2C Gene

1 KEGG pathway for RNASEH2C Gene

Gene Ontology (GO) - Biological Process for RNASEH2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006401 RNA catabolic process IDA,IEA 21177858
genes like me logo Genes that share ontologies with RNASEH2C: view

No data available for SIGNOR curated interactions for RNASEH2C Gene

Drugs & Compounds for RNASEH2C Gene

No Compound Related Data Available

Transcripts for RNASEH2C Gene

mRNA/cDNA for RNASEH2C Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(136) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RNASEH2C Gene

Ribonuclease H2, subunit C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNASEH2C Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: -
SP3: - -
SP4: -
SP5: - -

Relevant External Links for RNASEH2C Gene

GeneLoc Exon Structure for
RNASEH2C
ECgene alternative splicing isoforms for
RNASEH2C

Expression for RNASEH2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNASEH2C Gene

Protein differential expression in normal tissues from HIPED for RNASEH2C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.8) and Monocytes (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNASEH2C Gene



Protein tissue co-expression partners for RNASEH2C Gene

NURSA nuclear receptor signaling pathways regulating expression of RNASEH2C Gene:

RNASEH2C

SOURCE GeneReport for Unigene cluster for RNASEH2C Gene:

Hs.718438

mRNA Expression by UniProt/SwissProt for RNASEH2C Gene:

Q8TDP1-RNH2C_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for RNASEH2C Gene

  • Nervous system(4.6)
  • Intestine(2.2)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNASEH2C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
  • liver
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with RNASEH2C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RNASEH2C Gene

Orthologs for RNASEH2C Gene

This gene was present in the common ancestor of animals.

Orthologs for RNASEH2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNASEH2C 34 33
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNASEH2C 34 33
  • 79.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNASEH2C 34 33
  • 77.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnaseh2c 33
  • 75 (n)
mouse
(Mus musculus)
Mammalia Rnaseh2c 16 34 33
  • 73.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNASEH2C 34
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNASEH2C 34
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii RNASEH2C (1 of 2) 34
  • 39 (a)
OneToMany
RNASEH2C (2 of 2) 34
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30105 34
  • 25 (a)
OneToOne
Species where no ortholog for RNASEH2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNASEH2C Gene

ENSEMBL:
Gene Tree for RNASEH2C (if available)
TreeFam:
Gene Tree for RNASEH2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNASEH2C: view image

Paralogs for RNASEH2C Gene

Pseudogenes.org Pseudogenes for RNASEH2C Gene

genes like me logo Genes that share paralogs with RNASEH2C: view

No data available for Paralogs for RNASEH2C Gene

Variants for RNASEH2C Gene

Sequence variations from dbSNP and Humsavar for RNASEH2C Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs141875736 likely-benign, benign, Aicardi Goutieres syndrome, not specified, Aicardi Goutieres syndrome 3 65,720,320(-) CTTCTTCT/CTTCT coding_sequence_variant, inframe_deletion
rs142614068 likely-benign, Aicardi Goutieres syndrome 65,718,835(-) AAA/AAAA 3_prime_UTR_variant
rs147021687 uncertain-significance, benign, Aicardi Goutieres syndrome, Aicardi Goutieres syndrome 3 65,720,096(-) G/C coding_sequence_variant, synonymous_variant
rs182000627 uncertain-significance, Aicardi Goutieres syndrome 65,720,032(-) C/G/T intron_variant
rs186106053 uncertain-significance, Aicardi Goutieres syndrome 65,719,241(-) C/T 3_prime_UTR_variant

Variation tolerance for RNASEH2C Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNASEH2C Gene

Human Gene Mutation Database (HGMD)
RNASEH2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNASEH2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RNASEH2C Gene

Disorders for RNASEH2C Gene

MalaCards: The human disease database

(2) MalaCards diseases for RNASEH2C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome 3
  • aicardi-goutieres syndrome 1
aicardi-goutieres syndrome
  • cree encephalitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RNH2C_HUMAN
  • Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269 PubMed:16845400, ECO:0000269 PubMed:17846997, ECO:0000269 PubMed:20131292}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RNASEH2C

genes like me logo Genes that share disorders with RNASEH2C: view

No data available for Genatlas for RNASEH2C Gene

Publications for RNASEH2C Gene

  1. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. (PMID: 16845400) Crow YJ … Jackson AP (Nature genetics 2006) 2 3 4 58
  2. The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects. (PMID: 21177858) Figiel M … Nowotny M (The Journal of biological chemistry 2011) 3 4 58
  3. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (PMID: 17846997) Rice G … Crow YJ (American journal of human genetics 2007) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RNASEH2C Gene

Sources for RNASEH2C Gene